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This male fertility study aims to determine the lifestyle and environmental factors that put men at risk of infertility. About 30,000 couples seek help to have a baby each year in Australia. In half of the couples needing help, it is the man who has a fertility issue. The causes of male
Our group aims to improve current and future health outcomes in children with skeletal disorders by conducting clinical trials utilising new precision therapies.
The Australian Hand Difference Register (AHDR) is a database of children born with a hand difference and/or arm difference. Researchers in the Reproductive Epidemiology group manage the AHDR and there is a collaboration with clinicians from both the Plastic and Maxillofacial Surgery Department at
Improves child health and rare disease outcomes through collaborative genomics. The International Precision Child Health Partnership (IPCHiP), is the first major global collaboration around genomics and child health. As an international consortium IPCHiP leverages the medical and scientific
This project addresses a pressing need for people with Prader-Willi syndrome (PWS), their families, and clinicians. We aim to define biological predictors of disease severity in PWS, and to enable evidence-based choices of targeted treatments used for other conditions.
We have established and operate the first biobank in Australia aimed at improving research and treatments for rare genetic diseases caused by changes to genes on chromosome 15, including Prader-Willi syndrome (PWS) and Angelman syndrome (AS).
Iterative re-analysis of genomic data from undiagnosed patients with rare disease, at scale. In partnership with the Centre for Population Genomics and other national and international collaborators, this project developed an automated tool (Talos) that periodically reanalyses stored genomic
Developing new tests for X-linked and chromosome 15 imprinting disorders. To improve outcomes for children and their families through earlier diagnosis. The aim of this research is to study the methylation patterns of specific genes in individuals who have a genetic condition.We are interested in
RDNow initiative helps children who remain undiagnosed after genomic tests like exome sequencing (used to investigate complex health and developmental problems). This gives them the best chance of receiving a diagnosis and accessing the latest clinical trials and treatments. RDNow provides genomic
Our group aims to deliver precise diagnoses and optimal care for individuals with rare diseases, while ensuring access to the latest research and emerging therapies. We are dedicated to improving the lives of children with undiagnosed rare conditions through cutting-edge genomic research and
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